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OpenAlex topic

Genetic and Kidney Cyst Diseases

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 2,232 works 21 author topics

Works

2,232 works

  1. The International Society of Urological Pathology ISUP Vancouver Classification of Renal Neoplasia 2013
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 100.0%

    The classification working group of the International Society of Urological Pathology consensus conference on renal neoplasia was in charge of making recommendations regarding additions and changes to the current World Health Organization Classification of Renal Tumors (2004). Members of the group performed an exhaust…

  2. Gli2 and Gli3 Localize to Cilia and Require the Intraflagellar Transport Protein Polaris for Processing and Function 2005
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.8%

    Intraflagellar transport (IFT) proteins are essential for cilia assembly and have recently been associated with a number of developmental processes, such as left-right axis specification and limb and neural tube patterning. Genetic studies indicate that IFT proteins are required for Sonic hedgehog (Shh) signaling down…

  3. Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways 2011
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.7%

    More than 2% of adults harbor a pancreatic cyst, a subset of which progresses to invasive lesions with lethal consequences. To assess the genomic landscapes of neoplastic cysts of the pancreas, we determined the exomic sequences of DNA from the neoplastic epithelium of eight surgically resected cysts of each of the ma…

  4. Minimally Invasive Treatment of Malignant Hepatic Tumors: At the Threshold of a Major Breakthrough 2000
    YÖKSİS SJR Q1 JCR Q2 OpenAlex top 1% OpenAlex 99.7%

    Six existing minimally invasive techniques for the treatment of primary and secondary malignant hepatic tumors--radio-frequency ablation, microwave ablation, laser ablation, cryoablation, ethanol ablation, and chemoembolization--are reviewed and debated by noted authorities from six institutions from around the world.…

  5. A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts 2015
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.7%

    No abstract yet.

  6. Nephrotic Syndrome in the First Year of Life Two Thirds of Cases Are Caused by Mutations in 4 Genes NPHS1 NPHS2 WT1 and LAMB2 2007
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.2%

    OBJECTIVES: Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome manifesting in the first year of life is unknown. Therefore, we ana…

  7. Mutations in INPP5E encoding inositol polyphosphate 5 phosphatase E link phosphatidyl inositol signaling to the ciliopathies 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.4%

    No abstract yet.

  8. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum 2011
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.7%

    No abstract yet.

  9. IFT80 which encodes a conserved intraflagellar transport protein is mutated in Jeune asphyxiating thoracic dystrophy 2007
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.4%

    No abstract yet.

  10. Building consensus on definition and nomenclature of hepatic, pancreatic, and biliary organoids 2021
    OpenAlex top 1% OpenAlex 99.8%

    No abstract yet.

  11. Malakoplakia: Evidence for Monocyte Lysosomal Abnormality Correctable by Cholinergic Agonist in Vitro and in Vivo 1977
    OpenAlex top 10% OpenAlex 97.2%

    We studied monocyte function in a case of malakoplakia in an attempt to characterize the immune defect in this condition. Our patient's intracellular cyclic-GMP levels were abnormally low (mean +/- S.D. of 0.17 +/- 0.05 pmol per 10(7) malakoplakia cells, versus 0.79 +/- 0.12 in normals) p less than 0.001). After phago…

  12. Joubert syndrome a model for untangling recessive disorders with extreme genetic heterogeneity 2015
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.3%

    BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. Thi…

Academicians

21 academicians